otofaciocervical syndrome

medical condition
MedicalCondition developmental_defect_during_embryogenesis Q55781325
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otofaciocervical syndrome

Summary

otofaciocervical syndrome is a developmental defect during embryogenesis[1].

Key Facts

  • otofaciocervical syndrome's instance of is recorded as developmental defect during embryogenesis[2].
  • otofaciocervical syndrome's instance of is recorded as rare disease[3].
  • otofaciocervical syndrome's instance of is recorded as class of disease[4].
  • otofaciocervical syndrome is a type of rare genetic developmental defect during embryogenesis[5].
  • otofaciocervical syndrome is a type of branchial arch or oral-acral syndrome[6].
  • otofaciocervical syndrome's said to be the same as is recorded as Fara–Chlupackova syndrome[7].
  • otofaciocervical syndrome's genetic association is recorded as PAX1[8].
  • otofaciocervical syndrome's genetic association is recorded as EYA1[9].
  • otofaciocervical syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2792[10].

References

Programmatic citations — every numbered marker resolves to a verifiable graph row below.

Direct Wikidata claims

  1. [2] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  2. [3] ↑ . wikidata.org.
  3. [4] ↑ . wikidata.org.
  4. [5] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  5. [6] ↑ . Monarch Disease Ontology release 2018-06-29. Retrieved . wikidata.org.
  6. [7] ↑ . wikidata.org.
  7. [8] ↑ . A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  8. [9] ↑ . Point mutation of an EYA1-gene splice site in a patient with oto-facio-cervical syndrome. Retrieved . platform.opentargets.org. Provenance: wikidata.org.
  9. [10] ↑ . wikidata.org.

Class ancestry

  1. [1] ↑ . Wikidata. wikidata.org.

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Use these citations when quoting this entity in research, articles, AI prompts, or wherever provenance matters. We aggregate Wikidata + Wikipedia + authoritative open-data sources; the stitched, scored, cross-referenced view is what 4ort.xyz contributes.

APA 4ort.xyz Knowledge Graph. (2026). otofaciocervical syndrome. Retrieved October 5, 2026, from https://4ort.xyz/entity/otofaciocervical-syndrome
MLA “otofaciocervical syndrome.” 4ort.xyz Knowledge Graph, 4ort.xyz, 5 Oct. 2026, https://4ort.xyz/entity/otofaciocervical-syndrome.
BibTeX @misc{4ortxyz_otofaciocervical-syndrome_2026, author = {{4ort.xyz Knowledge Graph}}, title = {{otofaciocervical syndrome}}, year = {2026}, url = {https://4ort.xyz/entity/otofaciocervical-syndrome}, note = {Accessed: 2026-10-05}}
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Edit History

Rolling log of changes to this entity's Wikidata record. Values shown reflect the current state of each edited property — follow the history link to see the precise diff for any edit.

  1. 13w ago · JhealdBatch bot · 2026-07-03 view diff on Wikidata ↗
    Mondo id → MONDO_0008163
    Genetic association → PAX1, EYA1
    Gard rare disease id → 4169
    Orphanet id → 2792
    + 9 other properties edited (see Wikidata diff for full list)
    "/* wbeditentity-update:0| */ QuickStatements 3.0 [[:toollabs:qs-dev/batch/39742|batch #39742]]: subclass of disease, not instance"
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